Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 237 417
C4551563 Microcephaly (physical finding) phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 160 246
C2315100 Pediatric failure to thrive disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome Growth abnormality 89 118
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 63 92
C4317146 Acid reflux phenotype Finding Abnormality of the digestive system 50 58
C1854882 Absent speech phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 46 72
C1386048 Intrauterine retardation phenotype Pathologic Function Growth abnormality 41 56
C1837397 Severe global developmental delay phenotype Finding Abnormality of the nervous system 33 50
C0549629 Abnormal delivery phenotype Pathologic Function Abnormality of prenatal development or birth 32 37
C4281993 Neonatal respiratory distress phenotype Respiratory Tract Diseases Finding Abnormality of the respiratory system 31 34
C0235991 Small for gestational age (disorder) phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding Growth abnormality 28 34
C1837142 Poor suck phenotype Finding Abnormality of the digestive system 28 31
C2267233 Neonatal Hypotonia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the musculature 27 45
C4048268 Cortical visual impairment phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function Abnormality of the eye 21 27
C0494475 Tonic - clonic seizures disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 17 21
C0426886 Tapering fingers (finding) phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 16 19
C2677180 Congenital microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 15 28
C1860834 Infantile muscular hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 15 24
C1963101 Encephalopathy, CTCAE 3.0 phenotype Finding 14 24
C1866195 Downturned corners of mouth phenotype Anatomical Abnormality Abnormality of head or neck 12 14
C4072903 Primary Caesarian section phenotype Finding Abnormality of prenatal development or birth 11 15
C1855650 Birth length less than 3rd percentile phenotype Finding Growth abnormality 11 13
C0015300 Exophthalmos disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 7 10
C0005697 Neurogenic Urinary Bladder disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 7 9
C0039231 Tachycardia phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding Abnormality of the cardiovascular system 7 8